Cohen Syndrome: Review of the Literature.

Cohen syndrome was initially described as a syndrome including obesity, hypotonia, mental deficiency, and facial, oral, ocular and limb anomalies. Leukopenia, especially neutropenia, was later described as a feature of Cohen syndrome. Cohen syndrome is caused by an autosomal recessive (AR) mutation of the vacuolar protein sorting 13 homolog B (VPS13B, also referred to as COH1) gene on chromosome 8q22.2.

Outcomes for Umbilical Cord Blood Transplantation in Severe Combined Immunodeficiency Disorders: Ten-Year Experience.

The treatment of severe combined immunodeficiency (SCID) is immune reconstitution using hematopoietic stem cell (HSC) transplantation early in life. HLA-identical related donors are the preferred source of HSCs. Since sibling donors are available in <30% of patients, other sources of HSCs are considered-mismatched related donor, umbilical cord blood (UCB), and matched unrelated donor bone marrow. We report the outcome of 10 patients with SCID or combined immunodeficiency (CID) 10 years after UCB transplantation (UCBT) at our institution using a retrospective chart review. Eight patients were alive 10 years post-transplantation. This was the second transplant for 2 patients due to initial transplant engraftment failure. Immunologic reconstitution was demonstrated after transplant with presence of memory T cells at 3 months, naive T cells at 12 months, B cells at 3 months, and normal tetanus/diphtheria toxoid antibody responses at 2 years. Immune response remained robust 10 years post-transplantation. Eight patients developed stage I acute graft-versus-host disease (GvHD), 2 patients developed grades 2-4 GvHD, and 1 child developed chronic GvHD with bronchiolitis obliterans. UCB should be considered as an alternative HSC source for patients with SCID and CID because of its robust and sustained recovery of immune function, low risk of severe GvHD, and accessibility.

The spectrum of allergic fungal diseases of the upper and lower airways.

Fungi cause a wide spectrum of fungal diseases of the upper and lower airways. There are three main phyla involved in allergic fungal disease: (1) Ascomycota (2) Basidiomycota (3) Zygomycota. Allergic fungal rhinosinusitis (AFRS) causes chronic rhinosinusitis symptoms and is caused predominantly by Aspergillus fumigatus in India and Bipolaris in the United States. The recommended treatment approach for AFRS is surgical intervention and systemic steroids. Allergic bronchopulmonary aspergillosis (APBA) is most commonly diagnosed in patients with asthma or cystic fibrosis. Long term systemic steroids are the mainstay treatment option for ABPA with the addition of an antifungal medication. Fungal sensitization or exposure increases a patient's risk of developing severe asthma and has been termed severe asthma associated with fungal sensitivity (SAFS). Investigating for triggers and causes of a patient's asthma should be sought to decrease worsening progression of the disease.

Clinical Case of the Month. A 44-Year-Old HIV-Infected Man With Righ-Shoulder Swelling.

Immunocompromised patients are susceptible to various joint infections with less-common pathogens, such as mycobacterium. Physicians should have a low threshold to investigate the cause of an arthropathy further. An aspiration of the effusion is usually warranted to identify the possible pathogen and target treatment. We report an unusual presentation of a human immunodeficiency virus-infected patient with a chronic effusion arthropathy of his right shoulder due to Mycobacterium kansasii. We review the risk factors, transmission, clinical manifestations, and management of Mycobacterium kansasii.